Fig. 3

Splicing constraint around exon features. A The pattern of splicing constraint at and around exon features including constitutive exons (Full Inclusion Exons) and cassette exons (Moderate Inclusion Exons and High Inclusion Exons). Full Inclusion Exons have an inclusion rate of 100%. High Inclusion Exons have an inclusion rate >  = 90% and < 100%. Moderate Inclusion Exons have an inclusion rate < 90%. Plots are oriented 5′ to 3′ from left to right. Vertical dotted lines represent the relative start (left) and end (right) position of exons. Colors represent exon class based on inclusion rate. Dark lines for each exon class represent the median regional constraint score along the relative region around exons. The lighter shaded regions around the line represent the 95% CI determined by 1000 bootstrap iterations for each exon class. Oriented by the window size with the 2000 bp model on the top, 500 bp model in the middle, and 50 bp model on the bottom. Figure color legend is located to the right of the top plot. B, C Regional constraint score profiles for a poison exon in (B) and a randomly selected canonical SCN1A exon (C). The red horizontal bars in B represent the poison exon, and the dark blue horizontal bars in C represent the canonical exon. The gene track around the exon feature is shown below the regional constraint score profile with the GRCh38 3’ and 5’ (left and right, respectively) genomic coordinates for that exon feature above the gene track. SCN1A is on the negative strand; therefore 5′ to 3′ is from right to left in B and C. The regional constraint score track represents the splicing constraint profile using the 50 bp regional model